|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
3099081
|
IBIS
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
3099081
|
IBIS
|
853 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
3099081
|
IBIS
|
322 / 7739
|
|
4
|
(HPO:0002161)
|
Hyperlysinemia |
|
|
3099081
|
IBIS
|
7 / 7739
|
|
5
|
(HPO:0008265)
|
Mitochondrial lysine transport defect |
|
|
3099081
|
IBIS
|
1 / 7739
|
|
6
|
(OMIM)
|
Normal lysine-alpha-ketoglutarate reductase |
|
|
3099081
|
IBIS
|
1 / 7739
|
|
7
|
(OMIM)
|
Normal saccharopine dehydrogenase |
|
|
3099081
|
IBIS
|
1 / 7739
|
|
8
|
(HPO:0001288)
|
Gait disturbance |
|
|
3099081
|
IBIS
|
318 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
3099081
|
IBIS
|
1245 / 7739
|